Variant report

Variant	rs193085999
Chromosome Location	chr7:104758254-104758255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:104758047-104759648	MCF-7	breast:	n/a	n/a
2	POLR2A	chr7:104758064-104758681	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:104758022-104758282	ProgFib	skin:	n/a	n/a
4	POLR2A	chr7:104756442-104759276	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:104757864-104759205	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr7:104757998-104758696	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:104750548-104759120	K562	blood:	n/a	n/a
8	POLR2A	chr7:104757998-104758337	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr7:104758004-104759016	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr7:104757905-104758377	U87	brain:	n/a	n/a
11	POLR2A	chr7:104758129-104758371	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:104757084-104759770	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:104758224-104758274	Hela-S3	cervix:	n/a
2	chr7:104758224-104758274	AG04450	lung:	fetal
3	chr7:104758224-104758274	U87	brain:	n/a
4	chr7:104758224-104758274	AG09319	gingival:	n/a
5	chr7:104758224-104758274	HepG2	liver:	n/a
6	chr7:104758224-104758274	HCPEpiC	choroid plexus:	n/a
7	chr7:104758224-104758274	A549	lung:	n/a
8	chr7:104758224-104758274	BE2_C	brain:	n/a
9	chr7:104758224-104758274	ECC-1	luminal epithelium:	n/a
10	chr7:104758224-104758274	BJ	skin:	n/a
11	chr7:104758224-104758274	RPTEC	kidney:	n/a
12	chr7:104758224-104758274	HUVEC	blood vessel:	n/a
13	chr7:104758224-104758274	PANC-1	pancreas:	n/a
14	chr7:104758224-104758274	SK-N-MC	brain:	n/a
15	chr7:104758224-104758274	T-47D	breast:	n/a
16	chr7:104758224-104758274	PFSK-1	brain:	n/a
17	chr7:104758224-104758274	CMK	blood:	n/a
18	chr7:104758224-104758274	GM12891	blood:	n/a
19	chr7:104758224-104758274	SK-N-SH_RA	brain:	n/a
20	chr7:104758224-104758274	LNCaP	prostate:	n/a
21	chr7:104758224-104758274	NT2-D1	testis:	n/a
22	chr7:104758224-104758274	HEK293	kidney:	embryo
23	chr7:104758224-104758274	GM12892	blood:	n/a
24	chr7:104758224-104758274	NH-A	brain:	n/a
25	chr7:104758224-104758274	H1-hESC	embryonic stem cell:	embryo
26	chr7:104758224-104758274	AG09309	skin:	n/a
27	chr7:104758224-104758274	IMR90	lung:	fetal
28	chr7:104758224-104758274	SK-N-SH	brain:	n/a
29	chr7:104758224-104758274	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:104758224-104758274	MCF-7	breast:	n/a
31	chr7:104758224-104758274	GM19239	blood:	n/a
32	chr7:104758224-104758274	HL-60	blood:	n/a
33	chr7:104758224-104758274	AG04449	skin:	fetal
34	chr7:104758224-104758274	ovcar-3	ovarian:	n/a
35	chr7:104758224-104758274	Jurkat	blood:	n/a
36	chr7:104758224-104758274	SKMC	muscle:	n/a
37	chr7:104758224-104758274	Hepatocyte	liver:	n/a
38	chr7:104758224-104758274	Caco-2	colon:	n/a
39	chr7:104758224-104758274	SAEC	small airway:	n/a
40	chr7:104758224-104758274	GM06990	blood:	n/a
41	chr7:104758224-104758274	HCT-116	colon:	n/a
42	chr7:104758224-104758274	HRCEpiC	kidney:	n/a
43	chr7:104758224-104758274	NHDF-neo	bronchial:	n/a
44	chr7:104758224-104758274	HMEC	breast:	n/a
45	chr7:104758224-104758274	NHBE	bronchial:	n/a
46	chr7:104758224-104758274	AoSMC	blood vessel:	n/a
47	chr7:104758224-104758274	HRPEpiC	eye:	n/a
48	chr7:104758224-104758274	HRE	kidney:	n/a
49	chr7:104758224-104758274	HIPEpiC	eye:	n/a
50	chr7:104758224-104758274	HNPCEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104757007..104759673-chr7:105027481..105029991,2	MCF-7	breast:
2	chr7:104758250..104759925-chr7:105171993..105174192,2	MCF-7	breast:
3	chr7:104748748..104753813-chr7:104754456..104758355,8	K562	blood:

No data

Variant related genes	Relation type
SRPK2	TF binding region
SRPK2	CpG island
ENSG00000135249	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
8	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:104737800-104758800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:104738600-104758400	Strong transcription	Fetal Lung	lung
21	chr7:104738800-104760200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:104739000-104759200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr7:104740000-104758400	Strong transcription	NHDF-Ad	bronchial
24	chr7:104740200-104759000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:104740200-104759400	Strong transcription	Primary B cells from cord blood	blood
26	chr7:104740400-104759200	Strong transcription	Primary T cells from cord blood	blood
27	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:104740800-104758400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:104740800-104760200	Strong transcription	HMEC	breast
30	chr7:104741600-104758600	Strong transcription	Placenta	Placenta
31	chr7:104742200-104759800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:104742400-104760200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:104742800-104758400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:104743800-104758600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:104743800-104758600	Strong transcription	GM12878-XiMat	blood
36	chr7:104745200-104758600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr7:104750200-104777000	Weak transcription	Right Atrium	heart
38	chr7:104752800-104759400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:104752800-104763200	Weak transcription	Fetal Heart	heart
40	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
41	chr7:104753200-104758400	Strong transcription	Colon Smooth Muscle	Colon
42	chr7:104753200-104758800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:104753200-104760800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:104753600-104759000	Strong transcription	Brain Anterior Caudate	brain
45	chr7:104753600-104759600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:104753600-104759800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:104753600-104768000	Weak transcription	Psoas Muscle	Psoas
48	chr7:104753800-104759000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:104753800-104759000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:104753800-104759000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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